There is little information on the causes of myeloproliferative neoplasms (MPNs). Patients often ask ‘why do I have this disease?’ and for the majority there is no obvious reason. In 2013, MPN Voice provided the funding for a pilot study to evaluate the information and technology needed for researching potential causes of the condition.  MPN Voice has also pledged to provide funds for the continuation of this study.

This research, known as MOSAICC, (MyelOproliferative neoplasmS: An In-depth Case-Control) was led by Dr Lesley Anderson, a lecturer in Cancer Prevention at Queen's University Belfast and was an international collaboration of leading medical experts.  The study set out to investigate, validate and optimize methodology for a future UK-wide study.

Results of the research to date

We are incredibly grateful to the 106 MPN patients with Polycythaemia Vera (PV), Essential Thrombocythaemia (ET) or Myelofibrosis (PMF) and 81 of their relatives who participated in the study in addition to the 46 people who took part from the general public. Based on this pilot study we confirmed that smoking increases the risk of developing polycythaemia vera and obesity increases the risk of essential thrombocythaemia shown by recent studies.  In addition we identified some novel findings with MPN patients more likely than people without MPN (the controls) to have lived in more crowded households growing up, and having had several CT scans.  We now need a larger study to determine if these are indeed associated with an increased risk of developing MPNs.  

The severity of symptoms and quality of life were compared between cases and controls using the MPN-Symptom Assessment Form (SAF) developed by Ruben Mesa, Mayo Clinic, USA. This enabled us to investigate for the first time the diverse range of symptoms covered by the MPN-SAF in a group without the disease. MPN patients had significantly higher scores than controls for 25 of the 26 symptoms measured with fatigue the worst symptom. Female MPN patients suffered worse symptoms than male MPN patients and substantially worse  than female controls.  

Next steps and funding

The findings of this part of the study have led to a funded (NIHR Enabling Research Awards) pilot exercise intervention study to be conducted in Northern Ireland aiming to reduce fatigue and improve fitness and quality of life.  The results of the pilot should be available in 18 months with the potential of expanding the trial across the rest of the UK.  (mid-2019) 

Applications to obtain funding for the UK-wide study are underway, however, given that the team will be speaking to 500 patients with MPNs we would really like to make the best use of this opportunity to collect additional information and samples but don’t have the funds to do so yet, click here for details of the additional costs.  This is where you can help by donating to, or fundraising for, the MOSAICC Study via our JustGiving fundraising page.

Other questions raised by the study

In addition to the funded project Mr Glen James (nee Titmarsh) also worked on producing a systematic review of the number of people who get diagnosed with MPNs. Each year approximately 1 person in 119,000 develops PV, 1 in 97,000 gets ET, and 1 in 213,000 PMF.  There appears to be a lot of variation in the number of people with these conditions between countries. 

Publications from the funding provided by MPN Voice are highlighted below.  Applications to obtain funding for the UK-wide study are underway.

Myeloproliferative neoplasm patient symptom burden and quality of life: evidence of significant impairment compared to controls

Patient perspectives of a diagnosis of myeloproliferative neoplasm in a case control study

Minor allele frequency of myeloproliferative neoplasm mutations in the Irish blood donor population

How common are myeloproliferative neoplasms? A systematic review and meta-analysis

Community-acquired infections and their association with myeloid malignancies